Jonathan C Stephens

Jonathan C Stephens

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Jonathan C Stephens

Jonathan C Stephens

Publications by authors named "Jonathan C Stephens"

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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood 2016 06 15;127(23):2791-803. Epub 2016 Apr 15.

Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

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http://dx.doi.org/10.1182/blood-2015-12-688267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734PMC
June 2016

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Sci Transl Med 2016 Mar 2;8(328):328ra30. Epub 2016 Mar 2.

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1126/scitranslmed.aad7666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903547PMC
March 2016

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

Authors:
Sonja I Berndt Stefan Gustafsson Reedik Mägi Andrea Ganna Eleanor Wheeler Mary F Feitosa Anne E Justice Keri L Monda Damien C Croteau-Chonka Felix R Day Tõnu Esko Tove Fall Teresa Ferreira Davide Gentilini Anne U Jackson Jian'an Luan Joshua C Randall Sailaja Vedantam Cristen J Willer Thomas W Winkler Andrew R Wood Tsegaselassie Workalemahu Yi-Juan Hu Sang Hong Lee Liming Liang Dan-Yu Lin Josine L Min Benjamin M Neale Gudmar Thorleifsson Jian Yang Eva Albrecht Najaf Amin Jennifer L Bragg-Gresham Gemma Cadby Martin den Heijer Niina Eklund Krista Fischer Anuj Goel Jouke-Jan Hottenga Jennifer E Huffman Ivonne Jarick Åsa Johansson Toby Johnson Stavroula Kanoni Marcus E Kleber Inke R König Kati Kristiansson Zoltán Kutalik Claudia Lamina Cecile Lecoeur Guo Li Massimo Mangino Wendy L McArdle Carolina Medina-Gomez Martina Müller-Nurasyid Julius S Ngwa Ilja M Nolte Lavinia Paternoster Sonali Pechlivanis Markus Perola Marjolein J Peters Michael Preuss Lynda M Rose Jianxin Shi Dmitry Shungin Albert Vernon Smith Rona J Strawbridge Ida Surakka Alexander Teumer Mieke D Trip Jonathan Tyrer Jana V Van Vliet-Ostaptchouk Liesbeth Vandenput Lindsay L Waite Jing Hua Zhao Devin Absher Folkert W Asselbergs Mustafa Atalay Antony P Attwood Anthony J Balmforth Hanneke Basart John Beilby Lori L Bonnycastle Paolo Brambilla Marcel Bruinenberg Harry Campbell Daniel I Chasman Peter S Chines Francis S Collins John M Connell William O Cookson Ulf de Faire Femmie de Vegt Mariano Dei Maria Dimitriou Sarah Edkins Karol Estrada David M Evans Martin Farrall Marco M Ferrario Jean Ferrières Lude Franke Francesca Frau Pablo V Gejman Harald Grallert Henrik Grönberg Vilmundur Gudnason Alistair S Hall Per Hall Anna-Liisa Hartikainen Caroline Hayward Nancy L Heard-Costa Andrew C Heath Johannes Hebebrand Georg Homuth Frank B Hu Sarah E Hunt Elina Hyppönen Carlos Iribarren Kevin B Jacobs John-Olov Jansson Antti Jula Mika Kähönen Sekar Kathiresan Frank Kee Kay-Tee Khaw Mika Kivimäki Wolfgang Koenig Aldi T Kraja Meena Kumari Kari Kuulasmaa Johanna Kuusisto Jaana H Laitinen Timo A Lakka Claudia Langenberg Lenore J Launer Lars Lind Jaana Lindström Jianjun Liu Antonio Liuzzi Marja-Liisa Lokki Mattias Lorentzon Pamela A Madden Patrik K Magnusson Paolo Manunta Diana Marek Winfried März Irene Mateo Leach Barbara McKnight Sarah E Medland Evelin Mihailov Lili Milani Grant W Montgomery Vincent Mooser Thomas W Mühleisen Patricia B Munroe Arthur W Musk Narisu Narisu Gerjan Navis George Nicholson Ellen A Nohr Ken K Ong Ben A Oostra Colin N A Palmer Aarno Palotie John F Peden Nancy Pedersen Annette Peters Ozren Polasek Anneli Pouta Peter P Pramstaller Inga Prokopenko Carolin Pütter Aparna Radhakrishnan Olli Raitakari Augusto Rendon Fernando Rivadeneira Igor Rudan Timo E Saaristo Jennifer G Sambrook Alan R Sanders Serena Sanna Jouko Saramies Sabine Schipf Stefan Schreiber Heribert Schunkert So-Youn Shin Stefano Signorini Juha Sinisalo Boris Skrobek Nicole Soranzo Alena Stančáková Klaus Stark Jonathan C Stephens Kathleen Stirrups Ronald P Stolk Michael Stumvoll Amy J Swift Eirini V Theodoraki Barbara Thorand David-Alexandre Tregouet Elena Tremoli Melanie M Van der Klauw Joyce B J van Meurs Sita H Vermeulen Jorma Viikari Jarmo Virtamo Veronique Vitart Gérard Waeber Zhaoming Wang Elisabeth Widén Sarah H Wild Gonneke Willemsen Bernhard R Winkelmann Jacqueline C M Witteman Bruce H R Wolffenbuttel Andrew Wong Alan F Wright M Carola Zillikens Philippe Amouyel Bernhard O Boehm Eric Boerwinkle Dorret I Boomsma Mark J Caulfield Stephen J Chanock L Adrienne Cupples Daniele Cusi George V Dedoussis Jeanette Erdmann Johan G Eriksson Paul W Franks Philippe Froguel Christian Gieger Ulf Gyllensten Anders Hamsten Tamara B Harris Christian Hengstenberg Andrew A Hicks Aroon Hingorani Anke Hinney Albert Hofman Kees G Hovingh Kristian Hveem Thomas Illig Marjo-Riitta Jarvelin Karl-Heinz Jöckel Sirkka M Keinanen-Kiukaanniemi Lambertus A Kiemeney Diana Kuh Markku Laakso Terho Lehtimäki Douglas F Levinson Nicholas G Martin Andres Metspalu Andrew D Morris Markku S Nieminen Inger Njølstad Claes Ohlsson Albertine J Oldehinkel Willem H Ouwehand Lyle J Palmer Brenda Penninx Chris Power Michael A Province Bruce M Psaty Lu Qi Rainer Rauramaa Paul M Ridker Samuli Ripatti Veikko Salomaa Nilesh J Samani Harold Snieder Thorkild I A Sørensen Timothy D Spector Kari Stefansson Anke Tönjes Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Peter Vollenweider Henri Wallaschofski Nicholas J Wareham Hugh Watkins H-Erich Wichmann James F Wilson Goncalo R Abecasis Themistocles L Assimes Inês Barroso Michael Boehnke Ingrid B Borecki Panos Deloukas Caroline S Fox Timothy Frayling Leif C Groop Talin Haritunian Iris M Heid David Hunter Robert C Kaplan Fredrik Karpe Miriam F Moffatt Karen L Mohlke Jeffrey R O'Connell Yudi Pawitan Eric E Schadt David Schlessinger Valgerdur Steinthorsdottir David P Strachan Unnur Thorsteinsdottir Cornelia M van Duijn Peter M Visscher Anna Maria Di Blasio Joel N Hirschhorn Cecilia M Lindgren Andrew P Morris David Meyre André Scherag Mark I McCarthy Elizabeth K Speliotes Kari E North Ruth J F Loos Erik Ingelsson

Nat Genet 2013 May 7;45(5):501-12. Epub 2013 Apr 7.

US Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ng.2606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973018PMC
May 2013

Stabilization of a plasmid coding for a heterologous antigen in Salmonella enterica serotype typhi vaccine strain CVD908-htrA by using site-specific recombination.

Infect Immun 2006 Jul;74(7):4383-6

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.

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http://dx.doi.org/10.1128/IAI.00429-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1489714PMC
July 2006